A66V (p.Ala66Val) variant of ORC1 (Q13415)
A66V (p.Ala66Val) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A66V (p.Ala66Val) variant details
- p.Ala66Val
- gnomAD 13-40799210-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.85
- CADD 24.50
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available